Abstract :
A novel single nucleotide polymorphism—a C/T transition (RFPL-MspI) was found upon
sequencing of a 439 bp DNA fragment, comprising whole exon 4 and parts of adjacent
introns of the goat growth hormone receptor gene. This mutation was located at 8th
nucleotide of exon 4 (position 94 according to GenBank Acc. No. AY739707). The nucleotide
substitution has no effect on the amino acid sequence of the GHR protein. Within the cohort
of 227 Polish dairy goats three genotypes were found: CC (frequency 0.96), CT (0.036), and
TT (0.004). The frequency of C and T alleles was 0.978 and 0.022, respectively. It was shown
that CC genotype goats had significantly higher lactose content and lower somatic cell count
than those with the CT genotype. No association was found with the other milk production
traits studied.